Results 21 to 30 of about 1,662 (201)
CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 J. Clayton +9 more
+23 more sources
Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]
Ann NeurolObjective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Michael E +5 more
europepmc +2 more sources
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy
Frontiers in Genetics, 2023 Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments.
Cristina Skrypnyk +8 more
doaj +1 more source
Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant
American Journal of Perinatology Reports, 2021 Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng +4 more
doaj +1 more source
BMC Rheumatology, 2022 Background Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders.
Christina Vogel +3 more
doaj +1 more source
α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
Clinical Case Reports, 2021 We report a case of neonatal nemaline myopathy with a de novo TPM3 mutation, which has been classified as a likely pathogenic mutation. With the expanding use of genetic testing in congenital myopathies, genotype‐phenotype descriptions of novel variants ...
Sulaiman Almobarak +4 more
doaj +1 more source
A rare structural myopathy: nemaline myopathy [PDF]
Türk Pediatri Arşivi, 2018 Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and ...
Yeşilbaş, Osman +7 more
openaire +2 more sources
Frontiers in Cardiovascular Medicine, 2022 The heart and lung are in continuous reciprocal interaction that creates a functional and anatomical reserve referred to as cardiopulmonary coupling (CPC).
Diana Maria Ronderos-Botero +3 more
doaj +1 more source
Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
Acta Neuropathologica Communications, 2021 The MYH2 gene encodes the skeletal muscle myosin heavy chain IIA (MyHC-IIA) isoform, which is expressed in the fast twitch type 2A fibers. Autosomal dominant or recessive pathogenic variants in MYH2 lead to congenital myopathy clinically featured by ...
Nicolas N. Madigan +8 more
doaj +1 more source
Frontiers in Genetics, 2023 NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c ...
Yuefang Liu +5 more
doaj +1 more source